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Incidental Mutations
54
incidental mutations are currently displayed, and affect
54
genes.
14
are Possibly Damaging.
18
are Probably Damaging.
16
are Probably Benign.
5
are Probably Null.
1
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 54 of 54]
10
25
50
100
500
1000
per page
Full List
ID
Source
UTSW
APN
Gene
E-score
Stock #
Gen
G0
G0'
G1
G2
G3
G3R
F1
F2
F3
C0
C1
C2
C3
D1
HES
IPS
A3
Quality
-
Vld
Y
N
?
Strain
Chr
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
X
Y
Position
Mutation
A
R
N
D
C
E
Q
G
H
I
L
K
M
F
P
S
T
W
Y
V
*
A
R
N
D
C
E
Q
G
H
I
L
K
M
F
P
S
T
W
Y
V
*
Ref
A
C
G
T
-
Var
A
C
G
T
-
Type
makesense
missense
nonsense
start codon destroyed
start gained
synonymous
splice acceptor site
splice donor site
critical splice acceptor site
critical splice donor site
splice site
large deletion
large insertion
rearrangement
small deletion
small insertion
exon
frame shift
intragenic
intron
utr 3 prime
utr 5 prime
unclassified
Exon Dist
Zygosity
Homo
Het
Hemi
Null
Predicted Effect
unknown
probably benign
probably null
possibly damaging
probably damaging
noncoding transcript
silent
not run
no transcript
PPH Score
-
Meta Score
MGI Phenotype
available
none listed
Posted
1
395647
Actg2
0.000
R5165
G1
225
Y
6
83526832
I77F
T
A
missense
Het
probably benign
0.222
0.145
phenotype
06/21/2016
2
395638
Actl6a
1.000
R5165
G1
225
Y
3
32720208
V285I
G
A
missense
Het
probably benign
0.007
0.064
phenotype
06/21/2016
3
395653
Adam9
0.000
R5165
G1
225
Y
8
24967174
I646N
A
T
missense
Het
possibly damaging
0.881
0.179
phenotype
06/21/2016
4
395680
Ahnak
0.306
R5165
G1
225
Y
19
9015665
I4771T
T
C
missense
Het
possibly damaging
0.950
0.069
phenotype
06/21/2016
5
395655
Alas1
1.000
R5165
G1
225
Y
9
106241255
T223A
T
C
missense
Het
probably damaging
1.000
0.128
phenotype
06/21/2016
6
395657
Apc2
0.211
R5165
G1
208
Y
10
80315850
E2246G
A
G
missense
Het
probably damaging
0.986
0.105
phenotype
06/21/2016
7
395640
Atp1a1
1.000
R5165
G1
225
Y
3
101581789
I795T
A
G
missense
Het
probably benign
0.007
0.078
phenotype
06/21/2016
8
395656
Cdhr4
0.282
R5165
G1
225
Y
9
107997630
L633P
T
C
missense
Het
probably damaging
1.000
0.179
06/21/2016
9
395627
Cep350
0.957
R5165
G1
225
Y
1
155928368
S990P
A
G
missense
Het
probably damaging
0.999
0.326
phenotype
06/21/2016
10
395665
Cplx2
0.067
R5165
G1
225
Y
13
54378976
I66V
A
G
missense
Het
possibly damaging
0.799
0.202
phenotype
06/21/2016
11
395654
Cx3cl1
0.000
R5165
G1
225
Y
8
94779876
S170P
T
C
missense
Het
probably benign
0.044
0.090
phenotype
06/21/2016
12
395663
Cyth1
0.132
R5165
G1
225
Y
11
118169082
N353S
T
C
missense
Het
possibly damaging
0.825
0.070
phenotype
06/21/2016
13
395642
Dapp1
0.094
R5165
G1
225
Y
3
137939215
T
C
splice site
Het
probably null
0.976
phenotype
06/21/2016
14
395648
Dmwd
0.173
R5165
G1
225
Y
7
19078035
G
A
intron
Het
probably benign
06/21/2016
15
395677
Dsg1c
0.000
R5165
G1
225
Y
18
20277023
H516R
A
G
missense
Het
probably damaging
0.997
0.148
phenotype
06/21/2016
16
395679
Efemp2
1.000
R5165
G1
225
Y
19
5475411
C39R
T
C
missense
Het
probably damaging
0.999
0.935
phenotype
06/21/2016
17
395634
Fnbp4
0.881
R5165
G1
225
Y
2
90777657
Q908E
C
G
missense
Het
possibly damaging
0.647
0.101
06/21/2016
18
395670
Foxred2
0.000
R5165
G1
106
Y
15
77956012
V26A
A
G
missense
Het
probably damaging
0.996
0.818
06/21/2016
19
395666
Gkap1
0.000
R5165
G1
225
Y
13
58263196
A
G
critical splice donor site
2 bp
Het
probably null
0.949
phenotype
06/21/2016
20
395641
Gstcd
0.000
R5165
G1
225
Y
3
133084679
V109G
A
C
missense
Het
probably damaging
0.991
0.837
06/21/2016
21
395672
Hoxc9
0.000
R5165
G1
225
Y
15
102984000
M215K
T
A
missense
Het
probably damaging
0.999
0.346
phenotype
06/21/2016
22
395645
Igkv4-80
0.096
R5165
G1
225
N
6
69016665
S81A
A
C
missense
Het
probably benign
0.000
06/21/2016
23
395629
Kcnj9
0.000
R5165
G1
225
Y
1
172323157
D296E
A
T
missense
Het
probably benign
0.002
0.090
phenotype
06/21/2016
24
395626
Kctd18
0.073
R5165
G1
225
Y
1
57959236
Y68C
T
C
missense
Het
probably damaging
1.000
0.287
06/21/2016
25
395671
Kif21a
1.000
R5165
G1
225
Y
15
90956376
M1179K
A
T
missense
Het
probably benign
0.382
0.084
phenotype
06/21/2016
26
395664
Lrfn5
0.084
R5165
G1
225
Y
12
61839624
I66T
T
C
missense
Het
possibly damaging
0.895
0.308
phenotype
06/21/2016
27
395668
Lrp12
0.129
R5165
G1
225
Y
15
39872461
S692P
A
G
missense
Het
probably benign
0.000
0.090
phenotype
06/21/2016
28
395658
Lrrc10
0.000
R5165
G1
225
Y
10
117046060
N213I
A
T
missense
Het
probably benign
0.022
0.090
phenotype
06/21/2016
29
395628
Mettl11b
0.145
R5165
G1
225
Y
1
163722523
I53T
A
G
missense
Het
probably benign
0.011
0.090
06/21/2016
30
395637
Nceh1
0.089
R5165
G1
225
Y
3
27241528
V313I
G
A
missense
Het
probably benign
0.000
0.062
phenotype
06/21/2016
31
395652
Nkx6-3
0.143
R5165
G1
225
Y
8
23153743
H53Q
T
A
missense
Het
probably damaging
0.999
0.647
phenotype
06/21/2016
32
395669
Nov
0.165
R5165
G1
225
Y
15
54749189
D198G
A
G
missense
Het
probably damaging
0.999
0.065
phenotype
06/21/2016
33
395635
Olfr1276
0.159
R5165
G1
225
Y
2
111257223
V36E
T
A
missense
Het
possibly damaging
0.829
0.179
phenotype
06/21/2016
34
395676
Olfr128
0.072
R5165
G1
225
Y
17
37924361
D265G
A
G
missense
Het
probably benign
0.144
0.090
phenotype
06/21/2016
35
395659
Olfr1388
0.084
R5165
G1
225
Y
11
49444376
H175R
A
G
missense
Het
probably damaging
1.000
0.204
phenotype
06/21/2016
36
395681
Olfr1447
0.070
R5165
G1
225
Y
19
12901200
N193K
A
T
missense
Het
probably benign
0.001
0.090
phenotype
06/21/2016
37
395667
Oxct1
1.000
R5165
G1
225
Y
15
4053769
T157S
A
T
missense
Het
possibly damaging
0.869
0.307
phenotype
06/21/2016
38
395678
Pcdhga3
0.135
R5165
G1
225
Y
18
37675670
E392G
A
G
missense
Het
possibly damaging
0.595
0.322
phenotype
06/21/2016
39
395646
Polr1a
1.000
R5165
G1
225
Y
6
71967925
Y1322D
T
G
missense
Het
probably damaging
1.000
0.913
phenotype
06/21/2016
40
395674
Prkdc
0.956
R5165
G1
225
Y
16
15678272
S776T
T
A
missense
Het
probably damaging
0.996
0.210
phenotype
06/21/2016
41
395636
Ralgapb
1.000
R5165
G1
225
Y
2
158465912
I1047V
A
G
missense
Het
possibly damaging
0.672
0.092
06/21/2016
42
395631
Sertad4
0.161
R5165
G1
184
Y
1
192846822
S229T
A
T
missense
Het
possibly damaging
0.845
0.179
06/21/2016
43
395651
Shank2
0.000
R5165
G1
225
Y
7
144409636
V327D
T
A
missense
Het
possibly damaging
0.619
0.087
phenotype
06/21/2016
44
395643
Skint6
0.052
R5165
G1
225
Y
4
112865668
V904E
A
T
missense
Het
possibly damaging
0.861
0.179
06/21/2016
45
395661
Slfn8
0.075
R5165
G1
225
Y
11
83017127
Y197N
A
T
missense
Het
probably damaging
0.988
0.647
06/21/2016
46
395644
Smo
1.000
R5165
G1
123
Y
6
29736078
L23Q
T
A
missense
Het
unknown
0.066
phenotype
06/21/2016
47
395673
Snx29
0.000
R5165
G1
225
Y
16
11420775
M23K
T
A
missense
Het
probably damaging
0.982
0.471
06/21/2016
48
395662
Synrg
1.000
R5165
G1
225
Y
11
83990935
S366P
T
C
missense
Het
probably benign
0.021
0.090
phenotype
06/21/2016
49
395649
Tomm40
1.000
R5165
G1
225
Y
7
19713667
A
G
critical splice donor site
2 bp
Het
probably null
0.950
phenotype
06/21/2016
50
470559
Tpcn1
0.000
R5165
G1
150
Y
5
120557945
E81G
T
C
missense
Het
probably damaging
1.000
0.867
phenotype
03/13/2017
51
395660
Trappc1
1.000
R5165
G1
225
Y
11
69324234
Q26R
A
G
missense
Het
probably benign
0.434
0.092
phenotype
06/21/2016
52
395633
Ttn
1.000
R5165
G1
225
Y
2
76776556
T
A
critical splice acceptor site
Het
probably null
0.950
phenotype
06/21/2016
53
395675
Usp25
0.000
R5165
G1
225
Y
16
77076405
D450E
T
A
missense
Het
possibly damaging
0.847
0.426
phenotype
06/21/2016
54
395632
Zmynd19
0.000
R5165
G1
225
Y
2
24958189
Y132*
T
A
nonsense
Het
probably null
0.976
phenotype
06/21/2016
[records 1 to 54 of 54]